Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study

BMJ 1999;318:81-85 ( 9 January )

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Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study

Editorial by Mol

Jon Hyett, research fellow, ^a Marc Perdu, research fellow, ^a Gurleen Sharland, senior lecturer, ^b Rosalinde Snijders, lecturer, ^a Kypros H Nicolaides, professor. ^a

^a Harris Birthright Research Centre for Fetal Medicine, Department of Obstetrics and Gynaecology, King's College Hospital Medical School, London SE5 8RX, ^b Fetal Cardiology Unit, Guy's Hospital, London SE1 9RT

Correspondence to: Professor Nicolaides

Objectives: To examine the utility of measuring fetalnuchal translucency thickness in screening for major defects ofthe heart and great arteries at 10-14 weeks ofgestation.
Design: Population based cohortstudy.
Subjects: 29 154 singleton pregnancies with chromosomallynormal fetuses at 10-14 weeks ofgestation.
Setting: Fetal medicine centre inLondon.
Main outcome measure: Prevalence of major defects of the heart andgreatarteries.
Results: Of 50 cases with major defects of the heartand great arteries (prevalence 1.7 per 1000 pregnancies) 28 (56%,95% confidence interval 42% to 70%) were in the subgroup of 1822pregnancies with fetal nuchal translucency thicknesses above the95th centile of the normal range. The positive and negative predictivevalues for this cut off point of nuchal translucency thicknesswere 1.5% and 99.9%respectively.
Conclusions: Measurement of fetal nuchal translucency thickness $---$ traditionallyused to identify fetuses at high risk of aneuploidy $---$ at 10-14 weeksof gestation can identify a large proportion of fetuses with majordefects of the heart and greatarteries.

Key messages

The majority of congenital abnormalities of the heart and great arteries are associated with subcutaneous oedema in the neck region at 10-14 weeks of gestation
Subcutaneous oedema in the neck region can be visualised by ultrasonography as increased nuchal translucency thickness
The prevalence of major defects of the heart and great arteries increases with increasing fetal nuchal translucency thickness at 10-14 weeks of gestation
Measurement of fetal nuchal translucency thickness at 10-14 weeks of gestation is a sensitive method of screening for major defects of the heart and great arteries

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